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Adult polyglucosan body disease: A case report of a manifesting heterozygote

✍ Scribed by Eroboghene E. Ubogu; Stacey Tay Kiat Hong; Hasan Orhan Akman; Salvatore Dimauro; Bashar Katirji; David C. Preston; Barbara E. Shapiro

Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
184 KB
Volume
32
Category
Article
ISSN
0148-639X

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✦ Synopsis

Abstract

A 62‐year‐old man developed progressive gait instability, bladder dysfunction, proximal weakness, distal sensory loss, and mild cognitive impairment over 6 years. Neurologic examination revealed upper and lower motor neuron dysfunction in the lower extremities, with distal sensory loss. Electrodiagnostic studies, magnetic resonance imaging of the brain, and sural nerve biopsy were consistent with adult polyglucosan body disease. Biochemical and genetic analyses demonstrated reduced glycogen brancher enzyme levels associated with a heterozygous point mutation (Tyr329Ser or Y329S) in the glycogen brancher enzyme gene on chromosome 3. Mutational heterozygosity in the glycogen brancher enzyme gene has not been previously reported as a cause for this rare disease. A review of the clinical presentation, pathogenesis, etiology, and diagnosis of this disease is presented. Muscle Nerve, 2005

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